PSEN1 c.653C>T ;(p.P218L)

Variant ID: 14-73659456-C-T

NM_000021.3(PSEN1):c.653C>T;(p.P218L)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Identification of missing variants by combining multiple analytic pipelines.

Bmc Bioinformatics
Ren, Yingxue Y; Reddy, Joseph S JS; Pottier, Cyril C; Sarangi, Vivekananda V; Tian, Shulan S; Sinnwell, Jason P JP; McDonnell, Shannon K SK; Biernacka, Joanna M JM; Carrasquillo, Minerva M MM; Ross, Owen A OA; Ertekin-Taner, Nilüfer N; Rademakers, Rosa R; Hudson, Matthew M; Mainzer, Liudmila Sergeevna LS; Asmann, Yan W YW
Publication Date: 2018-04-16

Variant appearance in text: PSEN1: P218L
PubMed Link: 29661148
Variant Present in the following documents:
  • Main text
  • 12859_2018_Article_2151.pdf
  • 12859_2018_2151_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Evaluating pathogenic dementia variants in posterior cortical atrophy.

Neurobiology Of Aging
Carrasquillo, Minerva M MM; Barber, Imelda I; Lincoln, Sarah J SJ; Murray, Melissa E ME; Camsari, Gamze Balci GB; Khan, Qurat Ul Ain QUA; Nguyen, Thuy T; Ma, Li L; Bisceglio, Gina D GD; Crook, Julia E JE; Younkin, Steven G SG; Dickson, Dennis W DW; Boeve, Bradley F BF; Graff-Radford, Neill R NR; Morgan, Kevin K; Ertekin-Taner, Nilüfer N
Publication Date: 2016-01

Variant appearance in text: PSEN1: P218L
PubMed Link: 26507310
Variant Present in the following documents:
  • Main text
View BVdb publication page



C9ORF72 repeat expansions and other FTD gene mutations in a clinical AD patient series from Mayo Clinic.

American Journal Of Neurodegenerative Disease
Wojtas, Aleksandra A; Heggeli, Kristin A KA; Finch, Nicole N; Baker, Matt M; Dejesus-Hernandez, Mariely M; Younkin, Steven G SG; Dickson, Dennis W DW; Graff-Radford, Neill R NR; Rademakers, Rosa R
Publication Date: 2012

Variant appearance in text: PSEN1: 653C>T; Pro218Leu
PubMed Link: 23383383
Variant Present in the following documents:
  • Main text
View BVdb publication page